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loading...| Preferred Name |
achromatopsia 3 |
| Synonyms |
rod monochromatism 1 |
| Definitions |
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110008 |
| database_cross_reference |
GARD:9650 OMIM:262300 MESH:C536129 |
| definition |
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. |
| has exact synonym |
rod monochromatism 1 ACHM1 ACHM3 Pingelapese blindness rod monochromacy 1 RMCH1 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110008 |
| in_subset | |
| label |
achromatopsia 3 |
| notation |
DOID:0110008 |
| prefLabel |
achromatopsia 3 |
| subClassOf |
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